Type
Journal Article

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

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Authors:

Heidi L. Rehm
Joseph T. Alaimo
Swaroop Aradhya
Pinar Bayrak-Toydemir
Hunter Best
Rhonda Brandon
Jillian G. Buchan
Elizabeth C. Chao
Elaine Chen
Jacob Clifford
Ana S.A. Cohen
Laura K. Conlin
Soma Das
Kyle W. Davis
Daniela del Gaudio
Florencia Del Viso
Christina DiVincenzo
Marcia Eisenberg
Lucia Guidugli
Monia B. Hammer
Steven M. Harrison
Kathryn E. Hatchell
Lindsay Havens Dyer
Lily U. Hoang
James M. Holt
Vaidehi Jobanputra
Izabela D. Karbassi
Hutton M. Kearney
Melissa A. Kelly
Jacob M. Kelly
Michelle L. Kluge
Timothy Komala
Paul Kruszka
Lynette Lau
Matthew S. Lebo
Christian R. Marshall
Dianalee McKnight
Kirsty McWalter
Yan Meng
Narasimhan Nagan
Christian S. Neckelmann
Nir Neerman
Zhiyv Niu
Vitoria K. Paolillo
Sarah A. Paolucci
Denise Perry
Tina Pesaran
Kelly Radtke
Kristen J. Rasmussen
Kyle Retterer
Carol J. Saunders
Elizabeth Spiteri
Christine Stanley
Anna Szuto
Ryan J. Taft
Isabelle Thiffault
Brittany C. Thomas
Amanda Thomas-Wilson
Erin Thorpe
Timothy J. Tidwell
Meghan C. Towne
Hana Zouk
on behalf of the Medical Genome Initiative Steering Committee (Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan Taft, Euan Ashley, Ghunwa Nakouzi, Wei Shen, Stephen Kingsmore, Heidi Rehm)

Year:

2023
Genetics in Medicine

Description

Rehm and colleagues analyzed aggregate genetic testing results from 19 North American laboratories over a two-year period and found that exome and genome sequencing tests (ES/GS) yield a lower rate of reported variants of uncertain significance (VUS) compared to multi-gene panel (MGP) tests. They recommend changes to MGP reporting and provider education.

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Heidi L. Rehm